A to Z medical terms definitions (medical terminology dictionary )
|
A |
B |
C |
D |
E |
F |
G |
H |
I |
J |
K |
L |
M |
N |
O |
P |
Q | |
R |
S |
T |
U |
V |
W |
X |
Y |
Z |
Definition of Bannayan syndrome
Bannayan syndrome definition - medical term
A genetic disease characterized by macrocephaly (enlarged
head), multiple lipomas (benign fatty tumors) and hemangiomas (benign blood vessel
tumors). The macrocephaly occurs without enlargement of the cerebral ventricles.
There is mild neurological impairment and postnatal growth retardation.
Less frequent features associated with the syndrome may include antimongoloid
(upslanting) palpebral fissures (eye slits), high-arched palate, joint hyperextensibility,
pectus excavatum (caved-in chest), strabismus, amblyopia, seizures, and mental retardation.
Inheritance of the syndrome is as an autosomal dominant trait. An affected parent
has a 50:50 chance of transmitting the Bannayan gene to each of their children.
The gene is on chromosome 10q23.3 and the mutation is now known to involve the phosphatase
and tensin homolog gene called PTEN. A different mutation in PTEN causes Cowden
disease which is a syndrome of multiple hamartomas (malformations resembling tumors
composed of mature tissues), especially of the skin, mucous membranes, breast and
thyroid.
The syndrome is named after the Jerusalem-born American pathologist George A.
Bannayan who described a case with the disease in 1971. This may not have been the
first description of the disease. In 1960 Harris D. Riley and William R. Smith had
reported the same (or a remarkably similar) syndrome in a mother and 4 of her 7
offspring. The syndrome is also called "macrocephaly, multiple lipomas, and hemangiomata."
medical
dictionary, online medical dictionary, medical terminology
dictionary, free online medical dictionary, medical
dictionary, online medical dictionary, medical terminology
dictionary, free online medical dictionary, dictionary
medical, dictionary medical online, dictionary medical
terminology, dictionary free medical online, dictionary free
medical, dictionary medical terms, dictionary drug medical
medicine, dictionary health illustrated medical nursing
profession stedmans, dictionary English medical, dictionary
medical online terminology, dictionary encyclopedia medical
online, condition dictionary medical, dictionary medical,
dictionary drug medical, medical dictionary software, cyclopedic
dictionary index medical tabers thumb,
medical dictionary, online medical dictionary, medical
terminology dictionary
